Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 17759 | chr2 | 178576107 | G | A |
c.70025C>T
|
p.Pro23342Leu
|
- | 3.0 |
|
B | |
| 18281 | chr2 | 178576327 | C | T |
c.69805G>A
|
p.Gly23269Arg
|
3.0 |
|
B | ||
| 14058 | chr2 | 178576421 | G | A |
c.69716-5C>T
|
-
|
3.0 |
|
B | ||
| 21367 | chr2 | 178576582 | C | A |
c.69662G>T
|
p.Gly23221Val
|
- | 3.0 |
|
B | |
| 21145 | chr2 | 178576582 | C | T |
c.69662G>A
|
p.Gly23221Glu
|
- | 3.0 |
|
B | |
| 26069 | chr2 | 178576613 | C | T |
c.69631G>A
|
p.Glu23211Lys
|
3.0 |
|
B | ||
| 30142 | chr2 | 178576625 | C | T |
c.69619G>A
|
p.Gly23207Arg
|
- | 3.0 |
|
B | |
| 15339 | chr2 | 178576748 | C | T |
c.69496G>A
|
p.Asp23166Asn
|
3.0 |
|
B | ||
| 14183 | chr2 | 178577074 | C | T |
c.69261G>A
|
p.Trp23087Ter
|
- | 3.0 |
|
B | |
| 32890 | chr2 | 178577130 | C | T |
c.69205G>A
|
p.Gly23069Ser
|
3.0 |
|
B | ||
| 18063 | chr2 | 178577184 | T | C |
c.69151A>G
|
p.Asn23051Asp
|
- | 3.0 |
|
B | |
| 29091 | chr2 | 178577342 | G | C |
c.68993C>G
|
p.Ser22998Ter
|
- | 3.0 |
|
B | |
| 14439 | chr2 | 178577769 | T | G |
c.68657A>C
|
p.Lys22886Thr
|
- | 3.0 |
|
B | |
| 31249 | chr2 | 178577802 | C | T |
c.68624G>A
|
p.Gly22875Glu
|
- | 3.0 |
|
B | |
| 17760 | chr2 | 178577883 | G | A |
c.68543C>T
|
p.Pro22848Leu
|
- | 3.0 |
|
B | |
| 22021 | chr2 | 178578098 | G | T |
c.68417C>A
|
p.Thr22806Lys
|
- | 3.0 |
|
B | |
| 15992 | chr2 | 178578797 | G | T |
c.68224+9C>A
|
-
|
- | 3.0 |
|
B | |
| 31576 | chr2 | 178579030 | G | T |
c.68000C>A
|
p.Pro22667His
|
- | 3.0 |
|
B | |
| 26791 | chr2 | 178579303 | C | T |
c.67727G>A
|
p.Gly22576Asp
|
- | 3.0 |
|
B | |
| 28517 | chr2 | 178579361 | C | T |
c.67669G>A
|
p.Asp22557Asn
|
3.0 |
|
B |